Volume 8 Issue 4
Extended and Fully Automated Newborn Screening Method for Mass Spectrometry Detection
Stefan Gaugler, Jana Rykl, Irene Wegner, Tamara Von Däniken, Ralph Fingerhut and Götz Schlotterbeck
1CAMAG, Sonnenmattstr. 11, 4132 Muttenz, Switzerland
2Shimadzu Schweiz GmbH, Römerstrasse 3, 4153 Reinach, Switzerland
3Institute of Chemistry and Bioanalytics, University of Life Sciences, University of Applied Sciences Northwestern Switzerland FHNW, Gründenstr. 40, 4132 Muttenz, Switzerland
4Swiss Newborn Screening Laboratory, Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
*Author to whom correspondence should be addressed.
†These authors have contributed equally to the work.
Abstract
A new and fully automated newborn screening method for mass spectrometry was introduced in this paper. Pathological relevant amino acids, acylcarnitines, and certain steroids are detected within 4 min per sample. Each sample is treated in an automated and standardized workflow, where a mixture of deuterated internal standards is sprayed onto the sample before extraction. All compounds showed good linearity, and intra- and inter-day variation lies within the acceptance criteria (except for aspartic acid). The described workflow decreases analysis cost and labor while improving the sample traceability towards good laboratory practice.
Keywords:newborn screening (NBS); dried blood spots (DBS); automation